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Keratosis follicularis spinulosa decalvans

Asta Literature Retrieval: Pathophysiology and clinical mechanisms of Keratosis follicularis spinulosa decalvans. Core disease mechanisms, molec...

2026-05-11
Asta MONDO:0000136 Model: Asta Scientific Corpus Retrieval 14 citations

Asta Literature Retrieval: Pathophysiology and clinical mechanisms of Keratosis follicularis spinulosa decalvans. Core disease mechanisms, molec...

This report is retrieval-only and is generated directly from Asta results.

  • Papers retrieved: 14
  • Snippets retrieved: 20

Relevant Papers

[1] Keratosis Follicularis Spinulosa Decalvans in a female child- a rare presentation

  • Authors: Joyeeta Chowdhury, Loknath Ghoshal, S. Bannerjee
  • Year: 2017
  • Venue: Bangladesh Journal of Medical Science
  • URL: https://www.semanticscholar.org/paper/5e9f0cad42322d13b2cf3e594acb6befe3b8f955
  • DOI: 10.3329/BJMS.V16I4.33617
  • Citations: 1
  • Summary: A 6 year old girl came to us with total alopecia and multiple horny keratosis pilaris like skin lesions all over the body and was diagnosed as Keratosis follicularis spinulosa decalvans.
  • Evidence snippets:
  • Snippet 1 (score: 0.645) > Keratosis Follicularis Spinulosa Decalvans in a female child- a rare presentation

[2] Keratosis Follicularis Spinulosa Decalvans: A Rare Cause of Scarring Alopecia in Two Young Indian Girls

[3] Keratosis follicularis spinulosa decalvans: case report.

  • Authors: A. Berbert, S. A. Mantese, A. Rocha, Cláudia P Cherin, C. M. Couto
  • Year: 2010
  • Venue: Anais brasileiros de dermatologia
  • URL: https://www.semanticscholar.org/paper/92bc743c0fe409b45a2371207b99069be87e48b0
  • DOI: 10.1590/S0365-05962010000400017
  • PMID: 20944916
  • Citations: 9
  • Influential citations: 1
  • Summary: It is reported a case of child with intense cicatricial alopecia, with precocious changes that rapidly evolved to diffuse cic atricials on the scalp, which has limited the treatment, with disappointing results.
  • Evidence snippets:
  • Snippet 1 (score: 0.596) > Atrophic pillar keratosis comprehends three conditions that differ from each other according to the location of the lesions and level of inflammation and atrophy .They are : pillar keratosis face atrophying, atrophodermia vermiculata and keratosis follicularis spinulosa decalvans, possibly belonging to the same pathologic process, characterized by follicular hyperkeratosis with inflammation and subsequent atrophy. 1,4 ecently other authors have included a fourth type named folliculitis spinulosa decalvans, previously considered a persistent inflammatory variation of keratosis follicularis spinulosa decalvans 6 The term keratosis follicularis spinulosa decalvans was criated by Siemens, 7 in 1926, when he described some individuals from a Bavarian family that presented follicular papules on the face, trunk and extremities with partial loss of hairs on these areas and from that moment the disease became known as Siemens syndrome. Genetic studies in Dutch and English families showed connection with the Xp21.2-p22 gene. 8 However, other family analyses without evidence of inheritance linked to X suggest heterogeneous transmissions 1,3,4,9 and also sporadic 6 ones. > This disease starts in the early years of life, initially on the face and progressing towards the trunk and limbs and it might spread to other parts of the body. Palm-plantar hyperkeratosis, photophobia, corneal abnormalities and atopies can be associated. 1 Men are more seriously affected by the disease 1 . > The pathophysiology of the destruction of the pilar follicle is not well known yet. The first changes observed are hyperkeratosis and hypergranulosis of the infundibulum and isthmus, which cause inflammatory reaction (at the begining acute and lately chronic, with mononuclear infiltrate) on the epidermis and on the papillary dermis. Chronic changes are followed by fibrosis and the destruction of the follicle. > However, hyperkertosis does not seem to be the primary event; keratinocyte disorders would precipitate abnormal liberation of cytokine resulting in hyperkeratosis and inflammatory reactions. 3
  • Snippet 2 (score: 0.563) > Keratosis follicularis spinulosa decalvans is a rare disease, with genetic transmission either X-linked or sporadic, characterized by follicular hyperkeratosis and cicatricial alopecia. The disease usually begins in early childhood exacerbating throughout adolescence. The therapies are somewhat effective, with frustrating treatment when there are changes which are predominantly cicatricial. It is reported a case of child with intense cicatricial alopecia, with precocious changes (already present at birth) that rapidly evolved to diffuse cicatricial alopecia on the scalp, which has limited the treatment, with disappointing results.
  • Snippet 3 (score: 0.542) > Keratosis follicularis spinulosa decalvans is a rare disease characterized by follicular hyperkeratosis and cicatricial alopecia. There are many sporadic cases but the most intensive manifestations are found in men suggesting a pattern of inheritance linked to X. 1,2,3,4 Manisfestations of the disease start in childhood, frequently on the face, but it might be circumscribed to the face and extremities or generalized. Cicatricial alopecia on the scalp and supercilium is the marking characterisitc of the disease. Some cases show association with corneal opacity, photophobia and palm-plantar hyperkeratosis that usually start in adolescence 1,2 Up to this moment a completely effec-tive therapy is not known.
  • Snippet 4 (score: 0.537) > However, hyperkertosis does not seem to be the primary event; keratinocyte disorders would precipitate abnormal liberation of cytokine resulting in hyperkeratosis and inflammatory reactions. 3 he most important differential diagnoses for keratosis follicularis spinulosa decalvans are: KID syndrome (keratosis, ichthyosis, deafness), atrichia with papular lesions, and inherited mucoepithelial dystrophia. 5,10 is specific case refers to a female child, born from consaguineous parents presenting severe cicatricial alopecia that in general occurs in sporadic cases. The child was examined by specialists in genetics but it was not possible to determine if it was due to genetic inheritance or if it was a case of sporadic manifestation. > Keratosis follicularis spinulosa decalvans can present phases of more intense inflammatory activity in childhood, getting better throughout adolescence, which does not impede the slow progression to cicatricial alopecia in a later phase. > The present case calls the attention for its gravity and precocity of changes (at birth) with difuse cicatricial alopecia on the scalp of a female patient. > The treatment is frustating, with a few reports of slight improvement in cases at an early stage that present a major inflammatory component. The improvement, in general, refers only to stabilization of the alopecia and clinical improvement of the areas that present erythema and pustulas. Keratolytics, topical and intra lesions corticoids can reduce hyperkertosis and inflammation, to a certain extent only. > Different systemic treatments including isotretinoin, etretinate, dapsone and antibiotics have been tried with varied results 5,6,11 It is suggested that the use of retinoids in the early and more active phase of the disease, when histopathology shows perifollicular infiltrate, can bring some benefit. 3 reatment is even more disappointing when the disease predominantly shows cicatricial changes, as in this present study. Treatment in this circumstance is reduced only to the use of topical paliative medication.

[4] Keratosis follicularis spinulosa decalvans in a 15 months Cypriot girl

  • Authors: A. Kaptanoğlu, C. Dalkan, F. Baba
  • Year: 2016
  • Venue: Indian Journal of Paediatric Dermatology
  • URL: https://www.semanticscholar.org/paper/c6462a8257fc77f41a2eca4f9e29b2e2817a339e
  • DOI: 10.4103/2319-7250.179502
  • Summary: A Cypriot girl that diagnosed KFSD that do not have any family history is reported, which is a rare disease with unknown etiology that occurs after puberty by the development of scalp pustules with bacterial infection.
  • Evidence snippets:
  • Snippet 1 (score: 0.595) > Keratosis follicularis spinulosa decalvans in a 15 months Cypriot girl
  • Snippet 2 (score: 0.563) > Keratosis follicularis spinulosa decalvans (KFSD) is a rare disease with unknown etiology. It clinically presents with diffuse follicular hyperkeratosis of scalp which progress to atrophy, cicatricial alopecia, and photophobia. The lesions start in chilhood and an aggrevasion occurs after puberty by the development of scalp pustules with bacterial infection and causes both functional and cosmetic discomfort. Here, we report a Cypriot girl that diagnosed KFSD that do not have any family history.

[5] Keratosis follicularis spinulosa decalvans: A dermoscopic perspective

[6] KERATOSIS FOLLICULARIS SPINULOSA DECALVANS ASSOCIATED WITH ACNE KELOIDALIS NUCHAE

  • Authors: I. Topal, I. Sahin, Betül Berberoğlu, M. Ozer
  • Year: 2014
  • Venue: Our Dermatology Online
  • URL: https://www.semanticscholar.org/paper/90f12f1ac8159640bea81d0b3808104d30f9bf3f
  • DOI: 10.7241/OURD.20142.36
  • Summary: The case of a patient with KFSD associated with AKN, a syndrome of chronic folliculitis that manifests as follicular-based pustules and papules on the occipital region of the scalp, that were now manifesting as cicatricial alopecia is reported.
  • Evidence snippets:
  • Snippet 1 (score: 0.585) > KERATOSIS FOLLICULARIS SPINULOSA DECALVANS ASSOCIATED WITH ACNE KELOIDALIS NUCHAE
  • Snippet 2 (score: 0.541) > In 1905, Lamaris first described keratosis follicularis spinulosa decalvans (KFSD) as ichthyosis follicularis [1]. Later, Siemens provided more detailed phenotypic characteristics of the disease and first used the term KFSD in 1926 [2]. This condition is characterized by diffuse keratosis pilaris, cicatricial alopecia, and photophobia and is associated with cutis laksa, deafness, aminoaciduria, mental retardation, and atopy [3]. However, only very rarely has acne keloidalis nuchae (AKN) been associated with KFSD in the literature. Herein, we report a case of KFSD with acne keloidalis lesions.

[7] Keratosis follicularis spinulosa decalvans in a female.

  • Authors: F. Sequeira, E. Jayaseelan
  • Year: 2011
  • Venue: Indian journal of dermatology, venereology and leprology
  • URL: https://www.semanticscholar.org/paper/85620e7ed4d35ee6a80f0b34556144ef1680c8fa
  • DOI: 10.4103/0378-6323.79708
  • PMID: 21508573
  • Citations: 14
  • Influential citations: 1
  • Summary: This work describes this not so common entity of KFSD in a nine year old female child and describes how it differs between males and females.
  • Evidence snippets:
  • Snippet 1 (score: 0.573) > Keratosis follicularis spinulosa decalvans (KFSD), is a rare follicular syndrome associated with widespread keratosis pilaris and progressive scarring alopecia. This genodermatoses often starts at infancy or early childhood with an X-linked mode of inheritance. Males are predominantly affected and females frequently show no disease or only a mild form. We describe this not so common entity of KFSD in a nine year old female child.

[8] MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders

  • Authors: Natarin Caengprasath, T. Theerapanon, T. Porntaveetus, V. Shotelersuk
  • Year: 2021
  • Venue: Journal of Translational Medicine
  • URL: https://www.semanticscholar.org/paper/fe9d86c9d7756cfdcf3a0bb128efcbedc053fdff
  • DOI: 10.1186/s12967-021-02779-5
  • PMID: 33743732
  • PMCID: 7981912
  • Citations: 24
  • Influential citations: 1
  • Summary: The biological role of MBTPS2 in development is presented, its mutations and implicated disorders are summarized, and outstanding unanswered questions are discussed.
  • Evidence snippets:
  • Snippet 1 (score: 0.555) > Keratosis follicularis spinulosa decalvans (KFSD, MIM #308800) is a rare hereditary disorder of keratinization recognized by widespread hyperkeratotic follicular papules [87]. First described in 1926, the disorder is often presented at infancy or early childhood with an X-linked pattern of inheritance, though sporadic cases or cases inherited in an autosomal dominant fashion have been reported [88][89][90][91][92]. Some affected individuals exhibit extensive keratosis pilaris-like papules, as well as facial erythema, hypotrichosis, and cicatricial alopecia of the scalp, eyebrows, and eyelashes. Extracutaneous features include photophobia, keratitis, blepharitis, and enamel hypoplasia. As the phenotypes of this disorder considerably simulates IFAP, KFSD is sometimes considered as a 'milder form of IFAP, however, this disorder can be distinguished from IFAP via the nature of alopecia, which is progressive with variable degrees of inflammatory change leading to scarring in KFSD. > Mutations in MBTPS2 have been identified as one of the causative genes of KFSD. Alike mutations leading to the IFAP triad, mutations underlying KFSD lie within the TM domains of MBTPS2. In three unrelated families, a missense mutation in MBTPS2 (p.N508S) was identified in affected males displaying mild phenotypes [87]. Following this, two independent studies reported a Chinese and a Swedish family in which the same mutation segregated with mild phenotypes of KFSD [79,92]. The position of this recurrent mutation was mapped to be at the COOH-terminal end of MBTPS2 and a genotype-phenotype effect specific to MBTPS2 mutation was speculated (Fig. 4).

[9] MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders

  • Authors: Natarin Caengprasath, T. Theerapanon, T. Porntaveetus, V. Shotelersuk
  • Year: 2021
  • Venue: Journal of Translational Medicine
  • URL: https://www.semanticscholar.org/paper/34290316ee50bf6a7e751ca593aec8e9d6a105f0
  • DOI: 10.1186/s12967-021-02779-5
  • Summary: The biological role of MBTPS2 in development is presented, its mutations and implicated disorders are summarized, and outstanding unanswered questions are discussed.
  • Evidence snippets:
  • Snippet 1 (score: 0.555) > Keratosis follicularis spinulosa decalvans (KFSD, MIM #308800) is a rare hereditary disorder of keratinization recognized by widespread hyperkeratotic follicular papules [87]. First described in 1926, the disorder is often presented at infancy or early childhood with an X-linked pattern of inheritance, though sporadic cases or cases inherited in an autosomal dominant fashion have been reported [88][89][90][91][92]. Some affected individuals exhibit extensive keratosis pilaris-like papules, as well as facial erythema, hypotrichosis, and cicatricial alopecia of the scalp, eyebrows, and eyelashes. Extracutaneous features include photophobia, keratitis, blepharitis, and enamel hypoplasia. As the phenotypes of this disorder considerably simulates IFAP, KFSD is sometimes considered as a 'milder form of IFAP, however, this disorder can be distinguished from IFAP via the nature of alopecia, which is progressive with variable degrees of inflammatory change leading to scarring in KFSD. > Mutations in MBTPS2 have been identified as one of the causative genes of KFSD. Alike mutations leading to the IFAP triad, mutations underlying KFSD lie within the TM domains of MBTPS2. In three unrelated families, a missense mutation in MBTPS2 (p.N508S) was identified in affected males displaying mild phenotypes [87]. Following this, two independent studies reported a Chinese and a Swedish family in which the same mutation segregated with mild phenotypes of KFSD [79,92]. The position of this recurrent mutation was mapped to be at the COOH-terminal end of MBTPS2 and a genotype-phenotype effect specific to MBTPS2 mutation was speculated (Fig. 4).

[10] Keratosis Follicularis Spinulosa Decalvans: A Report of Three Cases

  • Authors: Dipali D Malvankar, Sarvajnamurthy A Sacchidanand
  • Year: 2015
  • Venue: International Journal of Trichology
  • URL: https://www.semanticscholar.org/paper/32223071aaac64612e2c7b20832a274653932a21
  • DOI: 10.4103/0974-7753.167461
  • PMID: 26622157
  • PMCID: 4639957
  • Citations: 13
  • Influential citations: 1
  • Summary: Three cases of this rare disorder affecting the hair follicles characterized by scarring alopecia of the scalp, eyebrows, and axillae are reported including one in a female.
  • Evidence snippets:
  • Snippet 1 (score: 0.552) > Keratosis follicularis spinulosa decalvans is a disorder affecting the hair follicles characterized by scarring alopecia of the scalp, eyebrows, and axillae, sometimes associated with photophobia and keratoderma. Being X-linked, it is more commonly seen in males but can be rarely seen in females also. We report three cases of this rare disorder including one in a female.

[11] Keratosis Follicularis Spinulosa Decalvans: Diagnosis and TherapeuticEvaluation.

  • Authors: K. Gharib, M. Khater, M. Nasr, M. Soliman, Ahmed Abdelshafi
  • Year: 2015
  • Venue: journal of Clinical Case Reports
  • URL: https://www.semanticscholar.org/paper/ffb7481079e1eef36bbe53db8333a3115214383d
  • DOI: 10.4172/2165-7920.1000532
  • Citations: 2
  • Summary: A family of two siblings of KFSD, boy had nine years and girl had five years old is presented, both of them carriers of this genodermatosis.
  • Evidence snippets:
  • Snippet 1 (score: 0.547) > Keratosis Follicularis Spinulosa Decalvans (KFSD) is an X-linked genodermatosis characterized by scarring alopecia and follicular hyperkeratosis. This condition mainly affects males with females being carriers and will have milder symptoms. We present a family of two siblings of KFSD, boy had nine years and girl had five years old. This genodermatosis often starts at infancy or early childhood. Keratosis pilaris atrophicans (KPA) is the umbrella term for a group of three rare and distinct clinical entities representing the scarring types of keratosis pilaris [1]. > Three categories of KPA include: Keratosis pilaris atrophicans faciei (KPAF), Atrophoderma Vermiculatum (AV) and Keratosis Follicularis Spinulosa Decalvans (KFSD). They have the following features in common: keratotic follicular papules, nonpurulent inflammation of variable degree, and atrophic end stages characterized by irreversible hair loss and/or atrophic depressions similar to pitted scars [2]. > KFSD simulates the ichthyosis follicularis alopecia photophobia (IFAP) syndrome. The latter is characterized by non-scarring alopecia, extensive keratosis piliaris, severe photophobia and corneal dystrophy. The presence of scarring alopecia in our patients favors the diagnosis of KFSD over the IFAP syndrome. The other follicular conditions that it needs to be differentiated from are lichen planopilaris and lichen spinulosus [3].
  • Snippet 2 (score: 0.531) > Keratosis Follicularis Spinulosa Decalvans (KFSD) is an X-linked > genodermatosis characterized by scarring alopecia and follicular > hyperkeratosis. This condition mainly affects males with females being > carriers and will have milder symptoms. We present a family of two > siblings of KFSD, boy had nine years and girl had five years old. This > genodermatosis often starts at infancy or early childhood. Keratosis > pilaris atrophicans (KPA) is the umbrella term for a group of three rare > and distinct clinical entities representing the scarring types of keratosis > pilaris.

[12] A rare presentation of keratosis follicularis spinulosa decalvans in female twins

  • Authors: R. Chauhan, Saumya Sankhwar, R. Tripathi, S. Pandey
  • Year: 2018
  • Venue: Indian Journal of Dermatology, Venereology and Leprology
  • URL: https://www.semanticscholar.org/paper/32b806a618ae76ef3afc69eecac3dd82bc212265
  • DOI: 10.4103/ijdvl.IJDVL_524_16
  • PMID: 28928337
  • Citations: 4
  • Summary: A 9‐year-old pair of monozygotic twin sisters, born of spontaneous, full‐term normal vaginal delivery, visited the dermatology outpatient department of Sir Sunderlal Hospital, Banaras Hindu University, Varanasi, with the absence of body and scalp hair since birth.
  • Evidence snippets:
  • Snippet 1 (score: 0.536) > Sir, A 9-year-old pair of monozygotic twin sisters, born of spontaneous, full-term normal vaginal delivery, visited the dermatology outpatient department of Sir Sunderlal Hospital, Banaras Hindu University, Varanasi, with the absence of body and scalp hair since birth. There was no history of consanguinity in parents. Parents were using various homemade remedies for the condition, on-and-off, including ayurvedic treatment, since 1 year of age. Some hairs appeared on the scalp one year later and they were persistent [Figures 1 and 2a]. Examination revealed small, discrete, spiny papules with follicular plugging, present on normal looking skin on the body [Figure 2b]. Oral mucosa, teeth, nails, palms and soles were found to be normal. There was no history of photophobia. Ophthalmic examination revealed no abnormal findings. Routine hematological and other laboratory studies were within normal limits. Hair microscopy was done to rule out hair shaft defects. > Histopathological examination of the hairy areas such as the scalp and extensor aspect of the left forearm showed sparse superficial perivascular and periappendageal lymphocytic infiltrates with no epidermal changes. Some of the follicular infundibula were dilated and plugged with orthokeratotic corneocytes while others showed mild spongiosis. There was dense perifollicular fibroplasia in some follicles and the terminal follicles were reduced in number on the scalp skin [Figures 3 and 4]. Based on these clinical and histopathological findings, these cases were diagnosed as keratosis follicularis spinulosa decalvans. > Keratosis follicularis spinulosa decalvans is a rare, X-linked, hereditary disorder of keratinization, characterized by the involvement of the skin and eyes. Keratosis follicularis spinulosa decalvans was first described as an X-linked dominant disorder. 1 However, in some cases, an autosomal dominant and sporadic inheritance have also been reported.

[13] Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2

  • Authors: E. Aten, Lisa C. Brasz, D. Bornholdt, Ingeborg B. Hooijkaas, M. Porteous et al.
  • Year: 2010
  • Venue: Human Mutation
  • URL: https://www.semanticscholar.org/paper/52a52d183695a401b3c4273ab61a9745d364b58e
  • DOI: 10.1002/humu.21335
  • PMID: 20672378
  • Citations: 72
  • Influential citations: 4
  • Summary: It is postulated that both phenotypes of KFSD are in the spectrum of one genetic disorder with a partially overlapping phenotype, and MBTPS2 is required for cleavage of sterol regulatory element‐binding proteins (SREBPs).
  • Evidence snippets:
  • Snippet 1 (score: 0.522) > Keratosis Follicularis Spinulosa Decalvans (KFSD) is a rare genetic disorder characterized by development of hyperkeratotic follicular papules on the scalp followed by progressive alopecia of the scalp, eyelashes, and eyebrows. Associated eye findings include photophobia in childhood and corneal dystrophy. Due to the genetic and clinical heterogeneity of similar disorders, a definitive diagnosis of KFSD is often challenging. Toward identification of the causative gene we reanalyzed a large Dutch KFSD family. SNP arrays (1 M) redefined the locus to a 2.9‐Mb region at Xp22.12–Xp22.11. Screening of all 14 genes in the candidate region identified MBTPS2 as the candidate gene carrying a c.1523A>G (p.Asn508Ser) missense mutation. The variant was also identified in two unrelated X‐linked KFSD families and cosegregated with KFSD in all families. In symptomatic female carriers, skewed X‐inactivation of the normal allele matched with increased severity of symptoms. MBTPS2 is required for cleavage of sterol regulatory element‐binding proteins (SREBPs). In vitro functional expression studies of the c.1523A>G mutation showed that sterol responsiveness was reduced by half. Other missense mutations in MBTPS2 have recently been identified in patients with IFAP syndrome. We postulate that both phenotypes are in the spectrum of one genetic disorder with a partially overlapping phenotype. Hum Mutat 31:1–9, 2010. © 2010 Wiley‐Liss, Inc.

[14] Keratosis Follicularis Spinulosa Decalvans Associated With Woolly Hair: A Case Report

  • Authors: Reem Brashi, Raghad E. Saleh, E. Alsulami, A. Niyazi, Maria AlSulami et al.
  • Year: 2024
  • Venue: Cureus
  • URL: https://www.semanticscholar.org/paper/de046f44f473bf66fff17faf8b284c0de31d61c8
  • DOI: 10.7759/cureus.65668
  • PMID: 39205768
  • PMCID: 11354409
  • Citations: 1
  • Summary: The case of a 14-year-old boy who presented with a history of abnormal hair since birth, who was diagnosed with KFSDX associated with woolly hair, who did not show up for further treatment during the follow-up.
  • Evidence snippets:
  • Snippet 1 (score: 0.519) > Keratosis follicularis spinulosa decalvans X-linked (KFSDX) is part of the spectrum of a rare disorder known as keratosis pilaris atrophicans. It has four variants including KFSDX, keratosis pilaris atrophicans faciei (ulerythema ophryogenes), atrophoderma vermiculata, and keratosis follicularis spinulosa decalvans (KFSD). The latter is an autosomal dominant condition also known as folliculitis spinulosa decalvans (FSD) [1]. These disorders are characterized by inflammatory keratotic follicular papules that later end in atrophy causing cicatricial alopecia [2]. KFSDX is an X-linked inherited disorder that affects the scalp, eyebrows, eyelashes, cheeks, nose, neck, dorsal hands, and fingers, whereas, in ulerythema ophryogenes, the lateral eyebrows, temples, cheeks, and forehead are affected [2]. In atrophoderma vermiculata, the cheeks, neck, and limbs are affected [3]. KFSD or FSD presents with follicular pustules on the scalp along with other features of KFSDX [3]. KFSDX is an X-linked recessive condition caused by a mutation in the membranebound transcription factor protease site 2 (MBTPS2) gene [4]. The onset of KFSDX starts during childhood with follicular keratotic papules. At puberty, the scarring alopecia develops. Woolly hair has been reported with KFSDX. The patient described in this case showed this very rare association of woolly hair with KFSDX.

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