|Year : 2012 | Volume
| Issue : 1 | Page : 32-35
Congenital hypotrichosis, eruptive milia, and palmoplantar pits: A case report with review of literature
GK Tharini, M Subashini, S Anupama Roshan, D Prabhavathy, S Jayakumar
Department of Dermatology, Madras Medical College and Rajiv Gandhi Government General Hospital, Chennai, Tamil Nadu, India
|Date of Web Publication||12-May-2012|
G K Tharini
New No. 108, Vellala Street, Purasavakkam, Chennai, Tamil Nadu
Source of Support: None, Conflict of Interest: None
| Abstract|| |
We report a ten-month-old male infant, presenting with congenital hypotrichosis of scalp, absence of eyebrows and eyelashes. He also had multiple milia over face and extremities along with palmoplantar pits. The infant was born to third degree consanguineous marriage. None of the family members had similar disease. Histopathology was consistent with milia. Based on these findings, a diagnosis of unclassified ectodermal dysplasia was made.
Keywords: Congenital hypotrichosis, ectodermal dysplasia, eruptive milia, palmoplantar pits
|How to cite this article:|
Tharini G K, Subashini M, Roshan S A, Prabhavathy D, Jayakumar S. Congenital hypotrichosis, eruptive milia, and palmoplantar pits: A case report with review of literature. Int J Trichol 2012;4:32-5
|How to cite this URL:|
Tharini G K, Subashini M, Roshan S A, Prabhavathy D, Jayakumar S. Congenital hypotrichosis, eruptive milia, and palmoplantar pits: A case report with review of literature. Int J Trichol [serial online] 2012 [cited 2020 Jan 20];4:32-5. Available from: http://www.ijtrichology.com/text.asp?2012/4/1/32/96086
| Introduction|| |
Ectodermal dysplasias are defined as a heterogeneous group of inherited, non-progressive disorders that have a primary defect in skin, hair, teeth, nail, and sweat glands. Herein, we describe one such case.
| Case Report|| |
A woman brought her ten-month-old male infant to our Department. He was the first born from a third degree consanguineous marriage. Birth history was uneventful. The birth weight, height, and developmental history were within normal limits. His mother reported that she noticed lack of eyebrows and eyelashes soon after birth. She noticed multiple white papules over face and extremities within a few months of age. None of the family members had similar disease.
On examination, all the three terminal hair-bearing areas before puberty were affected: Sparse and lightly pigmented hair over scalp, absence of eyebrows and eyelashes [Figure 1]a. Multiple discrete, white, superficial, firm papules were present over scalp, face, and ears [Figure 1]b. Few scattered papules were seen over thighs, legs, and hands [Figure 2]. Of Interest, there was abundant vellus hair growth over the back of the trunk without any single papule. The infant had numerous tiny pits over both palms and soles [Figure 3]. Teeth have not erupted. Nails and mucosae were normal. Sweating was normal. There was no evidence of systemic involvement. Microscopic examination showed thin and lightly pigmented hair. Histopathological examination of a papule was consistent with milia [Figure 4]. Radiological examination of skull, jaw, rib, and spine was normal. During the follow-up period of three months, there was no further development of lesions.
|Figure 1: (a) Photograph of the infant showing hypotrichosis over scalp, lack of eyebrows and eyelashes, and milia over face, Eyebrows have been drawn by the mother. (b) Milia over scalp and right ear|
Click here to view
|Figure 4: Histopathology of a papule showing cyst in dermis (H and E ×40)|
Click here to view
| Discussion|| |
Milia are multiple, asymptomatic, dome-shaped papules of 1 to 2 mm in size. They may be primary or secondary. Primary milia arise spontaneously over face and neck in susceptible individuals, while secondary milia occur on pathologically altered skin. Primary milia (eruptive milia) are benign keratinizing tumors of follicular origin, whereas secondary milia are retention cysts. Histopathology of milium reveals a cyst in dermis lined by stratified squamous epithelium, containing laminated keratin.
Milia and hypotrichosis together as seen in the present case may occur in atrichia with papular lesions (APL) and ectodermal dysplasias such as oral facial digital syndrome type I (other associations include cleft lip/palate, hypoplastic alae nasi, and brachydactyly) and Schopf-Schulz-Passarge syndrome (SSPS) (the other components being palmoplantar keratoderma, hypodontia, and furrowed nails). 
The various disorders with milia as a component are given in [Table 1]. APL (OMIM#209500) (Autosomal recessive inheritance) occurs due to mutation in the human homolog of the mouse hairless gene HR (602202). It is characterized by papules over most of the body, almost complete absence of hair with cystic malformation of hair follicles.  Nail, teeth, and sweating are normal. However, palmoplantar pits noticed in our patient are not seen.
This combination could also occur in certain conditions which have features of ectodermal dysplasia as well as cutaneous neoplasm, such as Bazex-Dupre-Christol syndrome (BDCS), Oley syndrome, Rombo syndrome, and Generalized basaloid follicular hamartoma syndrome (GBFHS). 
Palmoplantar pits are punctate depressions seen in the skin of palms and soles. They are asymptomatic and of size ranging from 1 to 2 mm in diameter with depth of around 1 mm. They may occur in keratolysis punctata, punctate keratoderma, arsenical keratosis, nevus comedonicus, Darier's disease, Kitamura's disease, Cole's disease, porokeratosis, Cowden syndrome, GBFHS, and Nevoid Basal Cell Carcinoma Syndrome (NBCCS).
In fact, the presence of three or more pits of palms and soles constitute one of the major criteria of NBCCS (OMIM # 109400).  Milia and epidermoid cysts may occur in NBCCS.  BCC may arise from palmoplantar pits of patients with NBCCS. NBCCS also predisposes individuals to skeletal anomalies as well as a variety of low-frequency tumors such as ovarian fibroma, rhabdomyosarcomas, and cardiac fibromas. NBCCS is caused by mutation in PTCHI (9q 22.3) (human homolog of Drosophila patched gene) gene, coding for a crucial protein of sonic hedgehog signaling pathway. 
Basaloid follicular hamartoma, a unique benign follicular tumor, may be congenital or acquired. The congenital form is subdivided into generalized (GBFHS) or unilateral type, while acquired form presents as a solitary growth.  GBFHS (OMIM#605827) is an autosomal dominantly inherited disease characterized by the presence of basaloid follicular hamartoma in association with hypotrichosis.  It can occur in association with systemic lupus erythematosus, antiphospholipid antibody syndrome, cystic fibrosis, or myasthenia gravis. GBFHS shows overlapping clinical and histological features of NBCCS. Numerous skin-colored papules appear at the distribution area of terminal hair such as scalp, axilla, and pubis as well as over face, eyelids, and trunk. Papules occur in parallel arrangement over neck (zebra stripes). Comedones, milia, acrochordons, diffuse scalp hypotrichosis, and palmoplantar pits may occur. Skin lesions appear in childhood and persist in adulthood. GBFHS and BCC are not related but malignant transformation to BCC has been reported. , Unlike NBCCS, there are no odontogenic cysts, keratocysts, skeletal anomalies, and predisposition to internal malignancy. Screening the PTCH1 gene for mutation can differentiate NBCCS from GBFHS, as mutation is present in the former. 
BDCS (OMIM 301845) is an x-linked dominant genodermatosis with features of milia, follicular atrophoderma of dorsa of hands, comedones, hypotrichosis of scalp and eyebrows, hypohidrosis, unusual facies, trichoepithelioma, hidradenitis suppurativa, hair shaft anomalies along with BCC occurring in second or third decade. , Milia were present in almost all patients with BDCS reported so far.  Follicular atrophoderma seen in BDCS was not observed in our patient.
Rombo syndrome is characterized by milia, hypotrichosis, trichoepithelioma, vermiculate atrophoderma of cheeks, peripheral vasodilatation, telangiectasia, and late-onset BCC.  However, our patient did not have vermiculate atrophoderma of cheeks and trichoepithelioma seen in Rombo syndrome. Oley syndrome (variant of BDCS) comprises of milia that spontaneously regress in adolescence, hypotrichosis, and BCC. 
Palmoplantar pits seen in our patient were not reported in APL, SSPS, oral facial digital syndrome type 1, BDCS, Oley syndrome, and Rombo syndrome. Palmoplantar pits are found in both NBCCS and GBFHS. However, the case discussed here had only one major criterion of NBCCS at the time of presentation. Likewise, even though eruptive milia, hypotrichosis of scalp, and palmoplantar pits described in GBFHS were present, the characteristic follicular hamartomatous lesions were absent. Apart from clinical features, genetic studies are essential for accurate categorization of these syndromes. Such facilities are not available in our center. Hence, we seek international cooperation for genetic analysis. Our present case is being regularly followed up for the appearance of any clinical feature that may guide the diagnosis. Meanwhile, the parents have been advised about the importance of using protective clothing and sunscreens.
| References|| |
|1.||Nanda A, Sharaf A, Alsaleh QA. Multiple milia in a newborn with congenital alformations: oral-facial-digital syndrome type 1. Pediatr Dermatol 2010;27:669-70. |
|2.||Kanzler MH, Rasmussen JE. Atrichia with papular lesions. Arch Dermatol 1986:122:565-7. |
|3.||Castori M, Castiglia D, Passarelli F, Paradisi M. Bazex-Dupré-Christol syndrome: An ectodermal dysplasia with skin appendage neoplasms. Eur J Med Genet 2009;52:250-5. |
|4.||Jones EA, Sajid MI, Shenton A, Evans DG. Basal cell carcinomas in gorlin syndrome: A review of 202 patients. J Skin Cancer 2011;2011:217378 |
|5.||Gorlin RJ. Nevoid basal-cell carcinoma syndrome. Medicine (Baltimore) 1987;66:98-113. |
|6.||Hellani A, Baghdadi H, Dabbour N, Almassri N, Abu-Amero KK. A novel PTCH1 germline mutation distinguishes basal cell carcinoma from basaloid follicular hamartoma: A case report. J Med Case Reports 2009;3:52. |
|7.||Brownstein MH. Basaloid follicular hamartoma: solitary and multiple types. J Am Acad Dermatol 1992;27:237-40. |
|8.||Lee DA, Grossman ME, Schneiderman P, Celebi JT. Genetics of skin appendage neoplasms and related syndromes. J Med Genet 2005;42:811-9. |
|9.||Go JW, Oh HE, Cho HK, Kang WH, Ro BI. A case of basaloid follicular hamartoma. Ann Dermatol 2010;22:229-31. |
|10.||Barcelos AC, Nico MM. Bazex-Dupré-Christol syndrome in a 1-year-old boy and his mother. Pediatr Dermatol 2008;25:112-3. |
|11.||Abuzahra F, Parren L, Frank J. Multiple familial and pigmented basal cellcarcinomas in early childhood - Bazex-Dupré-Christol syndrome. J Eur Acad Dermatol Venereol 2012;26:117-21. |
|12.||van Steensel MA, Jaspers NG, Steijlen PM. A case of Rombo syndrome. Br J Dermatol 2001;144:1215-8. Erratum in. Br J Dermatol 2002;146:715. |
|13.||Andreani V, Richard M, Folchetti G, Varennes S, Philip N, Grob JJ. [Congenital hypotrichosis and milia with spontaneous regression during adolescence or Oley syndrome: A variant of Bazex-Dupré-Christol syndrome]. Ann Dermatol Venereol 2000;127:285-8. |
[Figure 1], [Figure 2], [Figure 3], [Figure 4]